Your In-Person Visit to a Fragile X Clinic | Info Series (original) (raw)

Fragile X Info Series: Your In-Person Visit to a Fragile X Clinic

Fragile X Info Series: Your In-Person Visit to a Fragile X ClinicDany Petraska2023-06-15T13:58:15-04:00

Fragile X Info Series

Your In-Person Visit to a Fragile X Clinic

A comprehensive guide and checklists on how to prepare, what to expect, questions to ask, and more.

overview of fragile x syndrome and associated disorders

Fragile X is a group of conditions associated with changes in the Fragile X gene — called FMRl — located on the X chromosome. The FMRl gene can undergo changes, when inherited, which affects a pattern of DNA called CGG repeats. Typically, the FMRl gene has up to 54 CGG repeats. The range of 45–54 repeats is called the intermediate or “gray zone.” A premutation carrier has 55–200 CGG repeats, and someone with a full mutation has more than 200 CGG repeats.

When a premutation or full mutation is present, it can result in a Fragile X-associated disorder (FXD). These include:

FXS is an inherited disorder affecting intellectual, behavioral, and social development. It occurs in both males and females who have a full mutation of the FMR1 gene.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

FXTAS is an adult onset (over 50 years of age) neurological disorder, more common and more severe in males. It causes tremors, memory, and balance problems in those with a premutation of the FMR1 gene. (Both males and females who have a premutation are also referred to as “carriers.”)

FRAGILE X-ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY

FXPOI is a condition affecting ovarian function that can lead to infertility and early menopause in some female carriers.

OTHER PREMUTATION CONDITIONS

THE FRAGILE X CLINICAL AND RESEARCH CONSORTIUM (FXCRC)

The Fragile X Clinical and Research Consortium (FXCRC) was created by the National Fragile X Foundation in response to the growing needs of families whose members have one of the Fragile X-associated disorders. The FXCRC is composed of over 30 clinics, each of which has expertise in Fragile X.

Though all clinics serve individuals with FXS, many also serve those or have referrals for those with FXTAS, FXPOI, and other premutation carrier conditions.

Though each clinic operates independently, they often collaborate with one another, sharing resources, participating in research projects, and attending meetings of the FXCRC. New clinics are being added regularly across the U.S., and around the world.

Where to Begin

Begin by calling the clinic coordinator to discuss your concerns about your child or family member and what you hope to get out of the visit. Ask about the following:

What has to be done before the visit? Paperwork, etc. See Information Needed below.
What does a typical visit entail? Some clinics conduct evaluations over two days, which requires an overnight visit. Others may require only several hours.
In addition to seeing the clinic director, what evaluations are offered and by whom? Examples might include speech, occupational, physical, and behavioral therapies, and genetic counseling.
What other specialists are available? For example: psychologists, audiologists, neurologists, cardiologists, ophthalmologists, etc.
Are referrals made to local providers in your area?
After the evaluation, will the clinic director be available to review and discuss the results? Will each specialist be available, or will the clinic director review the findings of each specialist with you?
When will a written evaluation be available? Will it consist of separate reports by each clinic specialist or one report? Can you request that the report be sent to your providers, teachers, therapists, etc.?
Who will be available to interact with your local providers? To make sure treatment recommendations are clarified, discussed, and implemented?
Do they have a visual schedule of the visit you can access?

Also Ask About

What written or online materials will be available? A list of state and local resources? Handouts or articles on FXD for you to take back to school personnel, doctors, and other providers?
Will there be a possibility to participate in research?
What kind of insurance does the clinic accept? If you do not have insurance, ask if there are alternative payment plans and/or opportunities to participate in research trials.
Do they have recommendations for lodging facilities? To meet your needs regarding price, proximity to the clinic, dining opportunities, etc.? Do any of them offer discounts for those making hospital visits?
What restaurants, grocery stores and other attractions are in the area? (You may want to make a mini vacation of the visit.)
Is there an NFXF Community Support Network group or local family you could talk to? About the area and about your visit to the clinic? (The Community Support Network (CSN) is volunteer-led groups/people providing local support.)
A special consideration for those with FXTAS? Make sure to inquire about hotel and transportation/wheelchair issues.
The Fly with Me Fund? If you need financial assistance to travel to this clinic, ask about this fund.

Information Needed

Each clinic has an intake form for which you will most likely need the following:

Information about your immediate and extended family, including:
- Diagnoses of any individuals — living or deceased — with developmental delays, behavioral disorders, neurological disorders (including late onset conditions), fertility issues.
- Any genetic testing that has been done.
- Photos of any family members who may have Fragile X syndrome.
Information from baby books, scrapbooks, and journals that would note ages of developmental milestones, illnesses, medications (including any reactions), therapeutic interventions, etc.
Medical and educational records (for those with FXS). This would include:
- Genetic testing.
- Pediatric, medical, or psychiatric records.
- Psychological, speech, and occupational therapy evaluations.
- Records from school therapists and teachers.
If your visit is for FXTAS, bring:
- MRI reports.
- Neurological and/or psychiatric records.
- Any journal of symptoms and their progression.
If your visit is for FXPOI, bring:
- Records of medications, medical, menstrual/pregnancy history.
- Questions related to medical management or reproductive issues/options.
If your visit is for other premutation carrier issues, bring:
- Information from other doctors that may be appropriate.

What Are You Wondering About?

As you prepare for your visit, begin to write down basic questions for the clinic staff that may not have been covered in your initial discussion with the clinic coordinator. Please know — and continue to remind yourself — that no question is silly or strange or unwelcome.

If you are wondering about something, it’s virtually certain that the very same question has occurred to many other people — and Fragile X professionals have probably heard it.

Clinic staff are well-informed, trained, and compassionate, ready to answer (or find out the answer to) any question you may have. So please do ask!

Typical questions include:

Why does my child/family member do _________?
What can or should I do in these situations?
What can I expect from this type of therapy or medication?
Is it wrong to _________?

Don’t Forget To . . .

Bring your child’s favorite toys, puzzles, blankets, foods, and other comfort items.
Ask for special accommodations if you feel they would help. Example: if staying in the waiting room is difficult for your child, perhaps the staff can call you on your cell phone when they are ready to see you.
Bring your books, music, laptop computers, and other enjoyable items for yourself. (Headphones in waiting rooms can come in very handy.)
Build in some downtime during what can be a highly scheduled visit. If possible, find some time to visit a park, zoo, museum, attend a sporting event, go swimming, or anything else your family likes to do.
Treat your clinic visit as but one step in your family’s long-term education about Fragile X.

Follow Up Questions

What if I have follow up questions after receiving the report(s)?
Will the doctor answer questions/converse by phone or email following the visit, even months later?
How often should I expect to make an in-person visit?
Will the doctor do telehealth visits? (More info on telehealth below.)

Telehealth Visits: Suggestions for Parents on How to Prepare

We have gathered information to help you make the most of your online visit for your child with Fragile X syndrome, whether they are a young child or an adult. This article focuses on visits to a clinic that is a member of the FXCRC, but most of this information will also apply to a visit to a primary care doctor or other health professional.

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Your In-Person Visit to a Fragile X Clinic

A comprehensive guide and checklists on how to prepare, what to expect, questions to ask, and more.

How We Can Help

The NFXF is dedicated to serving the entire Fragile X community to live their best lives by providing the knowledge, resources, and tools, until, and even after more effective treatments and a cure are achieved. Learn more with Fragile X 101.

If you have questions please reach out to us at treatment@fragilex.org or call (800) 688-8765.